Patients' understandings and experiences of familial hypercholesterolemia.

Abstract

Aims: To explore patients' understanding and experiences of familial hypercholesterolemia (FH) and the significance of the hereditary aspect of the condition.

Methods: A qualitative study undertaken at a large lipid clinic in the north of England, involving semistructured interviews with 31 patients with definite FH, aged 18 years or over, who had attended the clinic for at least 6 months.

Results: Participants' explanations of FH and coronary heart disease (CHD) were not focused on heredity. FH was regarded as controllable and CHD as avoidable. Many participants had apparently been unaware of a family history of CHD or hypercholesterolemia prior to their own diagnosis. It was unclear how much information was communicated among relatives. While the testing of children was generally not viewed as a problem, there was some concern about young people worrying about or resisting diagnosis.

Conclusion: The study suggests that people with FH do not view genes/heredity as having a deterministic role in causing heart disease and that FH is largely seen as unproblematic in the long term. Nevertheless, particular support may be needed when diagnosing children and young adults. The communication of information in families is unpredictable and this has important implications for the organization of screening programs.